Human Disease and Mouse Model Detail

Human Disease

Term: Oculopharyngeal Muscular Dystrophy; OPMD
OMIM ID: 164300

Synonyms

Muscular Dystrophy, Oculopharyngeal

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

PABPN1

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Transgenes and
other mutation types

Tg(ACTA1-PABPN1*A17)1Drub		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(CAG-GLVP)#Cath
Tg(GAL4-PABPN1*A16)#Cath

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models involving transgenes or other mutation types.¹
Tg(ACTA1-PABPN1*A17)1Drub/0		involves: FVB/N	J:115642
Tg(CAG-GLVP)#Cath/0 Tg(GAL4-PABPN1*A16)#Cath/0		involves: C57BL/6 * FVB	J:178541

¹Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12